hrp0094fc7.5 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

Rituximab therapy in Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome

Hawton Katherine , Doffinger Rainer , Ramanan Athimalaipet , Langton Hewer Simon C , Giri Dinesh , Hamilton Shield Julian P ,

Introduction: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) is a rare syndrome that presents during early childhood and is associated with high morbidity and mortality. 40-50% of patients have neural crest tumours, most commonly ganglioneuromas or ganglio-neuroblastomas denoted by the suffix ROHHAD(NET) in a subset of patients. Currently, there is no specific diagnostic biomarker available and diagnosis...